Cleft palate, and Retinal dystrophy

Diseases related with Cleft palate and Retinal dystrophy

In the following list you will find some of the most common rare diseases related to Cleft palate and Retinal dystrophy that can help you solving undiagnosed cases.


Top matches:

Low match JOUBERT SYNDROME 26; JBTS26


Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

Low match HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME


Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).

HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME Is also known as barakat syndrome|hdrs|nephrosis, nerve deafness, and hypoparathyroidism|hdr syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME

Low match SYNDROMIC MICROPHTHALMIA TYPE 5


Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

SYNDROMIC MICROPHTHALMIA TYPE 5 Is also known as mcops5|syndromic microphthalmia/anophthalmia due to otx2 mutation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MICROPHTHALMIA TYPE 5

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Other less relevant matches:

Low match JOUBERT SYNDROME WITH RENAL DEFECT


Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.

JOUBERT SYNDROME WITH RENAL DEFECT Is also known as js-r

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH RENAL DEFECT

Low match JOUBERT SYNDROME WITH OCULAR DEFECT


Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.

JOUBERT SYNDROME WITH OCULAR DEFECT Is also known as joubert syndrome with retinopathy|js-o

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULAR DEFECT

Low match SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 Is also known as majewski syndrome|short rib-polydactyly syndrome, type ii|srps2a|srps, type ii|polydactyly with neonatal chondrodystrophy, type ii|short rib-polydactyly syndrome, type iia

Related symptoms:

  • Short stature
  • Cleft palate
  • Delayed speech and language development
  • Motor delay
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6

Low match WALKER-WARBURG SYNDROME


Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Low match CRANIOECTODERMAL DYSPLASIA 2; CED2


Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

Low match ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5


Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009).There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and Marden-Walker syndrome (MWKS ), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition.For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (OMIM ). Genetic Heterogeneity of Distal Arthrogryposis 5A subtype of DA5 due to mutation in the ECEL1 gene (OMIM ) on chromosome 2q36 has been designated DA5D (OMIM ). See NOMENCLATURE.

ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 Is also known as daiib|arthrogryposis, distal, type iib|arthrogryposis with oculomotor limitation and electroretinal abnormalities|oculomelic amyoplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5

Low match STICKLER SYNDROME TYPE 2


A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities.

Related symptoms:

  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia
  • Retinopathy


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 2

Top 5 symptoms//phenotypes associated to Cleft palate and Retinal dystrophy

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Ptosis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Retinal dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Oral cleft Agenesis of corpus callosum Retinopathy Generalized hypotonia Anteverted nares Cerebellar vermis hypoplasia Hydrocephalus Polymicrogyria Iris coloboma Strabismus Scoliosis Encephalocele Astigmatism Myopia Cataract Micrognathia Abnormal heart morphology Renal insufficiency Sensorineural hearing impairment Muscular hypotonia Hypertelorism Frontal bossing Ataxia Oculomotor apraxia Micropenis Cleft lip Molar tooth sign on MRI

Rare Symptoms - Less than 30% cases


Hydrops fetalis Hepatic fibrosis Pachygyria Short ribs Mesomelia Feeding difficulties Retinal dysplasia Microglossia Anophthalmia Long face Optic nerve hypoplasia Tremor Microcornea Apraxia Clinodactyly Coloboma Horizontal ribs Joint laxity Pectus excavatum Posteriorly rotated ears Microphthalmia Intellectual disability, severe Motor delay Hypothyroidism Gait disturbance Hand polydactyly Macrocephaly Brachydactyly Polydactyly Craniosynostosis Hypermetropia Narrow chest Cleft upper lip Abnormal pattern of respiration Abnormality of the hypothalamus-pituitary axis Biparietal narrowing Nephronophthisis Renal cyst Talipes equinovarus Aganglionic megacolon Highly arched eyebrow Blepharophimosis Postaxial hand polydactyly Cerebellar hypoplasia Hearing impairment Abnormality of eye movement Prominent nasal bridge Apnea Low-set, posteriorly rotated ears Abnormality of cardiovascular system morphology Respiratory insufficiency Narrow mouth Rod-cone dystrophy Congenital contracture Proteinuria Hydronephrosis Protruding ear Acidosis Corneal opacity Areflexia Ectodermal dysplasia Central hypothyroidism Polycystic kidney dysplasia High palate Renal dysplasia Hypertension Epicanthus Retinal detachment Cryptorchidism Bilateral ptosis Growth delay Ectopic posterior pituitary Short neck Muscle weakness Chronic kidney disease Low-set ears Flexion contracture Wide nasal bridge Excessive daytime sleepiness Cerebellar cyst Type II lissencephaly Agyria Cerebellar dysplasia Splenomegaly Muscle fiber splitting Peters anomaly Dolichocephaly Aqueductal stenosis Posterior fossa cyst Buphthalmos Abnormality of the optic nerve Smooth philtrum Stage 5 chronic kidney disease Abnormal cortical gyration Everted lower lip vermilion Full cheeks Remnants of the hyaloid vascular system Metatarsus valgus Meningoencephalocele High forehead Midface retrusion Abnormality of the dentition Hernia Abnormality of the skeletal system Limb undergrowth Hepatomegaly Depressed nasal bridge Patent ductus arteriosus Abnormal aldolase level Inguinal hernia Upslanted palpebral fissure Thick cerebral cortex Polyhydramnios Aplasia/Hypoplasia involving the skeletal musculature Sparse hair Retrognathia Hypoplastic male external genitalia Chorioretinal dysplasia Elevated hepatic transaminase Telecanthus Abnormal lactate dehydrogenase activity Macrogyria Abnormality of the pinna Severe hydrocephalus Syndactyly Abnormality of the cerebellar vermis Abnormal levels of creatine kinase in blood Hypoglycosylation of alpha-dystroglycan Microdontia Absent phalangeal crease Narrow forehead Adducted thumb Long fingers Restrictive ventilatory defect Macular dystrophy Decreased muscle mass Bilateral talipes equinovarus Mask-like facies Abnormal electroretinogram Bilateral single transverse palmar creases Abnormality of the hip bone Narrow face Joint contracture of the hand Abnormality of retinal pigmentation Abnormal lung morphology Lumbar hyperlordosis Wide intermamillary distance Webbed neck Vertebral segmentation defect Tarsal synostosis Abnormality of skin pigmentation Unilateral ptosis Congenital finger flexion contractures Round ear Limited wrist extension Keratoglobus Decreased palmar creases Ulnar deviation of the wrist Duane anomaly Retinal fold Abnormality of the sternum Tapetoretinal degeneration Abnormality of the rib cage Overlapping fingers Hypoventilation Distal arthrogryposis Aplasia/Hypoplasia of the radius Ulnar deviation of finger Keratoconus Triangular face Arachnodactyly Cholestasis Patent foramen ovale Megalocornea Polysplenia Cutaneous finger syndactyly Internally rotated shoulders Cystic hygroma Sparse eyebrow Preaxial polydactyly Widely spaced teeth High anterior hairline Cutis laxa Plagiocephaly Sparse eyelashes Narrow palpebral fissure Hyperbilirubinemia Rhizomelia Left ventricular hypertrophy Exophoria Biliary cirrhosis Abnormality of the foot Firm muscles Ophthalmoplegia Amyoplasia Arthrogryposis multiplex congenita Joint stiffness Decreased facial expression Hyperlordosis Camptodactyly Deeply set eye Cholangitis Alopecia Congestive heart failure Fused teeth Metopic synostosis Portal fibrosis Bile duct proliferation Cloverleaf skull Broad philtrum Bilateral cleft lip Spondylometaphyseal dysplasia Retinal atrophy Photophobia Hypocalcemic seizures Uterus didelphys Distal renal tubular acidosis Proximal renal tubular acidosis Pseudopapilledema Septate vagina Thickening of the glomerular basement membrane Bilateral renal dysplasia Unilateral deafness Abnormality of T cell physiology Parathyroid hypoplasia Unilateral renal dysplasia Downslanted palpebral fissures Respiratory distress Scarring Ovarian cyst Macular scar Nephropathy Abnormality of the eye Cognitive impairment Myopic astigmatism Aglossia Proboscis Mandibular aplasia Hypoplasia of the maxilla Hypoplasia of the fovea Posterior embryotoxon Short middle phalanx of finger Arnold-Chiari malformation Microretrognathia Pigmentary retinopathy Aplasia of the uterus Vaginal atresia Breathing dysregulation Pain Hematuria Stroke Abnormality of the kidney Myalgia Diabetes mellitus Cardiomyopathy Inferior vermis hypoplasia Bilateral sensorineural hearing impairment Panhypopituitarism Recurrent upper respiratory tract infections Cone/cone-rod dystrophy Tachypnea Growth hormone deficiency Recurrent infections Vesicoureteral reflux Nephrotic syndrome Tetany Psoriasiform dermatitis Severe postnatal growth retardation Hypoparathyroidism Renal tubular acidosis Basal ganglia calcification Progressive sensorineural hearing impairment Unilateral renal agenesis Polycystic ovaries Horizontal nystagmus Abnormality of the urinary system Hyperkinesis Ischemic stroke Nephrocalcinosis Multicystic kidney dysplasia Hypocalcemia Delayed gross motor development Hypometric saccades Submucous cleft hard palate Dilatation Muscular dystrophy Microtia Proptosis Glaucoma Elevated serum creatine phosphokinase Hyporeflexia Myopathy Congenital cataract Blindness Hypoplasia of the corpus callosum Ventriculomegaly Optic atrophy Skeletal muscle atrophy Intrauterine growth retardation Abnormality of the cerebral white matter Anal atresia Disproportionate shortening of the tibia Atresia of the external auditory canal Occipital encephalocele Absent septum pellucidum Congenital glaucoma Abnormality of neuronal migration Hypoplasia of the brainstem Congenital muscular dystrophy Lissencephaly Bifid uvula Severe muscular hypotonia Heterotopia Intellectual disability, profound Hypoplasia of penis Specific learning disability Dandy-Walker malformation Microcephaly Postaxial polysyndactyly of foot Elongated superior cerebellar peduncle Ventricular septal defect Pectus carinatum Skeletal dysplasia Brachycephaly Severe short stature Edema Atrial septal defect Delayed speech and language development Pulmonary hypoplasia Retinal coloboma Foot polydactyly Dextrocardia Abnormal vertebral morphology Visual loss Thickened superior cerebellar peduncle Platyspondyly Intestinal malrotation Polysyndactyly of hallux Abnormality of the larynx Shortening of the tibia Pancreatic fibrosis Hypoplasia of the epiglottis Hamartoma of tongue Median cleft lip and palate Lateral clavicle hook Dilation of lateral ventricles Ambiguous genitalia Thoracic dysplasia Short tibia Median cleft lip Preaxial hand polydactyly Tricuspid regurgitation Abnormality of the genital system Abnormal vitreous humor morphology



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